Contributions
Abstract: PB2405
Type: Publication Only
Background
HbS/beta+ thalassemia (S/beta+ th) patients usually suffer from a mild form of the disease; nevertheless, there are many grey areas concerning the clinical decision-making process, since most evidence is derived from SS and S/beta0 patients who suffer from a severe clinical condition. Specific protocols of care are lacking.
We started our project on the observation of a patient with S/beta+ th, who experienced a moderate/severe form of the disease, with unexpected high number of vaso-occlusive crise (VOC) episodes.
Aims
To report on a subpopulation of Sickle Cell Disease (SCD) patients, i.e. S/beta+ th
Methods
We prepared an excel database in order to collect essential clinical data from such patients. The file has been used in 11 centres which are part of the AIEOP (Associazione Italiana di Ematologia ed Oncologia Pediatrica).
Results
We collected data from 34 patients (20 males), aged 1.7-55 years (median 11.6).
Country of parents’ origin were Albania (21), Italy (18), Ivory Coast (6), Senegal (4), Burkina Faso (4), Brasil, Santo Domingo, India, Tanzania and Ghana (2 each). The most frequent thalassemia mutations were IVS-6 T>C (7 patients) and IVS-I-110 G>A (6 patients). Diagnosis of SCD was obtained as prenatal diagnosis in 5 patients, for the remaining 31, median age at diagnosis was 3.1 years; the event that lead to diagnosis was a clinical occurrence related to SCD in 16/32 patients; for 16/32 diagnosis was either fortuitous or due to familiarity, unknown in the remaining 2 patients.
Anaemia was mild, median Hb concentration being 9.5 g/dl. Current clinical appearance was related mainly to VOC, with a median 0.5 episodes/year (range 0-6); other manifestations included splenic sequestration in 3/32 patients, acute chest syndrome in 2/34, osteomyelitis ind 1/34 and stroke in 1/30. Out of 26 patients screened for Transcranial Doppler (TCD), it was reported 1 conditional and 1 abnormal pattern, respectively.
10/33 patients were on hydroxyurea; 4/28 on regular transfusion regimen. Antibiotic prophylaxis was prescribed to 19/33 patients. No genotype-phenotype correlation was found.
Conclusion
Our “real-life” data show a heterogeneous clinical spectrum, with different policies regarding therapy (none, hydroxyurea, transfusion) and antibiotic prophylaxis in the various centres. Clinical data reveal a subgroup of patients with a more severe clinical phenotype, requiring disease modifying treatments, like the severe genotypes, and raise the need to reconsider the routine follow up clinical protocol currently applied to S/beta+ th patients, including TCD.
Session topic: 27. Sickle cell disease
Keyword(s): Beta thalassemia, Hydroxyurea, Vasoocclusive crisis
Abstract: PB2405
Type: Publication Only
Background
HbS/beta+ thalassemia (S/beta+ th) patients usually suffer from a mild form of the disease; nevertheless, there are many grey areas concerning the clinical decision-making process, since most evidence is derived from SS and S/beta0 patients who suffer from a severe clinical condition. Specific protocols of care are lacking.
We started our project on the observation of a patient with S/beta+ th, who experienced a moderate/severe form of the disease, with unexpected high number of vaso-occlusive crise (VOC) episodes.
Aims
To report on a subpopulation of Sickle Cell Disease (SCD) patients, i.e. S/beta+ th
Methods
We prepared an excel database in order to collect essential clinical data from such patients. The file has been used in 11 centres which are part of the AIEOP (Associazione Italiana di Ematologia ed Oncologia Pediatrica).
Results
We collected data from 34 patients (20 males), aged 1.7-55 years (median 11.6).
Country of parents’ origin were Albania (21), Italy (18), Ivory Coast (6), Senegal (4), Burkina Faso (4), Brasil, Santo Domingo, India, Tanzania and Ghana (2 each). The most frequent thalassemia mutations were IVS-6 T>C (7 patients) and IVS-I-110 G>A (6 patients). Diagnosis of SCD was obtained as prenatal diagnosis in 5 patients, for the remaining 31, median age at diagnosis was 3.1 years; the event that lead to diagnosis was a clinical occurrence related to SCD in 16/32 patients; for 16/32 diagnosis was either fortuitous or due to familiarity, unknown in the remaining 2 patients.
Anaemia was mild, median Hb concentration being 9.5 g/dl. Current clinical appearance was related mainly to VOC, with a median 0.5 episodes/year (range 0-6); other manifestations included splenic sequestration in 3/32 patients, acute chest syndrome in 2/34, osteomyelitis ind 1/34 and stroke in 1/30. Out of 26 patients screened for Transcranial Doppler (TCD), it was reported 1 conditional and 1 abnormal pattern, respectively.
10/33 patients were on hydroxyurea; 4/28 on regular transfusion regimen. Antibiotic prophylaxis was prescribed to 19/33 patients. No genotype-phenotype correlation was found.
Conclusion
Our “real-life” data show a heterogeneous clinical spectrum, with different policies regarding therapy (none, hydroxyurea, transfusion) and antibiotic prophylaxis in the various centres. Clinical data reveal a subgroup of patients with a more severe clinical phenotype, requiring disease modifying treatments, like the severe genotypes, and raise the need to reconsider the routine follow up clinical protocol currently applied to S/beta+ th patients, including TCD.
Session topic: 27. Sickle cell disease
Keyword(s): Beta thalassemia, Hydroxyurea, Vasoocclusive crisis